·596·生垡控丝型盘盍2Q塑生!旦筮丝鲞筮竺期垦!堕』丛!坚巴!：!!堪!坚些!!Q塑，!堂!丝：盟垒!肢带型肌营养不良2B型与多发性肌炎的临床及病理鉴别诊断李娜刘亚玲李秋香袁军辉赵哲沈宏锐胡静．神经遗传病．【摘要】目的分析肢带型肌营养不良2B型(LGMD2B)与多发性肌炎(PM)的临床、病理诊断与鉴别诊断要点。方法对8例首诊为PM，再诊时高度怀疑LGMD2B的患者做开放式骨骼肌活体组织检查，行组织化学及抗dysferlin、dystrophins、sarcoglycans、MHC-I、CD。单克隆抗体免疫组织化学染色，与4例PM进行临床、病理对比分析。结果(1)组织化学染色2组患者均呈不同程度的肌纤维变性、坏死，炎细胞浸润；临床可疑LGMD2B患者dystrophins、sarcoglycans蛋白表达正常，dysferlin蛋白表达缺失，MHC．I弱或阴性表达，少数炎细胞CD。阳性表达，因此确诊为LGMD2B；4例PM患者肌纤维膜上dysferlin蛋白表达正常，MHC-I在肌纤维膜及炎细胞浸润区呈强阳性表达，部分炎细胞CD。阳性表达。(2)LGMD2B与PM临床均表现为近端肌无力，血肌酸激酶显著增高，肌电图呈肌源性异常。LGMD2B肌痛不明显，红细胞沉降率、c反应蛋白正常，有别于PM。结论LGMD2B与PM在临床、骨骼肌组织化学染色病理上相似，易误诊；LGMD2B患者dysferlin蛋白表达缺失及PM患者的MHC．I、CD。强阳性表达可作为两者诊断与鉴别诊断的重要方法。【关键词】肌营养不良，肢带型；多发性肌炎；诊断，鉴别；膜蛋白质类；肌蛋白质类，主要组织相容性复合物；抗原，CD8Clinicalandpathologicalanalysisoflimb-girdlemusculardystrophytype2Bmisdiagnosed衄polymyositisⅡNa，“U玩一ling，UQiu—xiang，YUANJun—hui，ZHAOZhe，SHEN舶昭一删，HU胁g．DepartmentofNeuromuscularDiseaseandNeuromuscl‘2口rLaboratory．theThirdHospitalofltebeiMedicalUnwers浙．Shijiazhuang050晒I。ChinaCorrespondingauthor：ⅣU如皤，Email：jinghujp@yahoo．corn．cn【Abstract】ObjectiveTodiagnoseanddifferentiallydiagnoselimb—girdlemusculardystrophytype2B(LGMD2B)andpolymyositis(PM)basedOilclinicalandpathologicalcharacteristics．MethodsMusclebiopsieswereobtainedfrom8patientssuspectedwithLGMD2BwhowereinitiallydiagnosedwithPM．Theelinicalandpathologicaldatafrom8casesofLGMD2Band4casesofPMbyusinghisto-andimmunohistochemistrywithanti-dysferlin，dystrophins，sarcoglycans，MHC·I，CD8monoclonalantibodieswerecompared．Results(1)LGMD2BandPMsharedsimilarpathologicalpresentationsincludingmusclefiberdegenerationandnecrosisinvariousdegree。proliferationofconnectivetissue，andinflammatorycellinfiltration．Normalstainsofdystrophinsandsarcoglycanswereobserred．whereasabsentorveryfaintstainingofdysfedinobservedinmusclebiopsiesof8patientsconfirmedt11ediagnosisof【￡MD2B．whilenormalstainsofdysferlinonsarcolemmawereobservedinthe4csgesofPM．MHC．1wagweaklyexpressedorabsentinLGMD2B．whilestronglyexpressedonsarcolemmainPMandtheinfiltrationarmofinflammationcells．TheexpressionofCDRonafewinflammatorycellswerepositiveinLGMD2B，whilesomeinflammatorycellswerepositiveinPM．(2)BothLGMD2BandPMsharedsimilarpresentation，includingproximalmuscleweakness，remarkableelevationofCK，myopathicchangesinelectromyography．PatientswithLGMD2Bdidnotcomplainofapparentmusclepain．andtheirerythrocytesedimentationrateandC-reactiveproteinwer℃innormalrange．whichcouldbeusedasmarkertodifferentiatefrompatientswithPM．ConclusionsClinicallyandpathologicallyLGMI)2BandPMarepresentedsimilarlyandlikelytobemisdiagnosed．TheabsenceofdysferlininLGMD2BandhiShexpressionofMHC．IandCD8inPMarethekeyindexofthediagnosisanddifferentialdiagnosisbetweenLGMl)2BandPM．DOI：10．3760／craa．j．issn．1006-7876．2009．09．008基金项目：河北省自然科学基金资助项目(C20060(D838)；河...
